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Updated: Feb 6, 2026

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CSF1R遺伝子の新規変異によるCSF1R関連疾患（CSF1R-RD）

Anup N Sonti¹, Elizabeth Joe^1,2, Jillian V Berry³

¹Department of Neurology, USC Keck School of Medicine, Los Angeles, CA, USA.

|February 4, 2026

まとめ

CSF1R関連疾患は、コロニー刺激因子1受容体（CSF1R）遺伝子の変異によって引き起こされるまれな神経変性疾患である。本研究では、新規のS840C変異を含むCSF1R変異を有する3人の患者と剖検所見を詳述し、疾患の病理に関する新たな洞察を提供する。

科学分野:

神経科学
遺伝学
希少疾患

背景:

CSF1R関連疾患（CSF1R-RD）は、まれな神経変性疾患である。
CSF1R遺伝子の変異がCSF1R-RDを引き起こす。
200以上の変異と多様な表現型が知られている。

研究の目的:

CSF1R-RDの3例の症例シリーズを提示する。
2つのCSF1R変異、I827Nおよび新規のS840Cを記述する。
詳細な臨床、診断、および剖検所見を通じて、CSF1R-RDの病理に関する新たな洞察を提供する。

主な方法:

症例シリーズの提示。
CSF1R変異の遺伝子解析。
臨床および放射線学的評価。
1例における剖検所見。

主要な成果:

CSF1R-RDの患者3例を特定した。
2つの変異が見つかった：I827Nおよび新規のS840C。
剖検所見は、I827N変異の詳細な病理学的洞察を提供した。

結論:

本研究は、CSF1R変異とその関連表現型の理解を広げる。
CSF1R-RDにおいて新規変異S840Cを同定する。
剖検所見は、CSF1R-RDの神経病理学に関する知識を深める。

キーワード:

ALSP CSF1R CSF1R-RD I827N S840C 白質ジストロフィー

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